Canonical Allele Identifier: CA337397670
Gene: BCORP1 HGNC NCBI

Linked Data

dbSNP Id: rs373707621
gnomAD v3: Y-19512441-A-G
gnomAD v4: Y-19512441-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19512441A>G , CM000686.2:g.19512441A>G GRCh38
NC_000024.9:g.21674327A>G , CM000686.1:g.21674327A>G GRCh37
NC_000024.8:g.20133715A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000650676.1:n.112-32147T>C